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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Meningoencephalocele


Other Names for this Disease
  • Encephalomeningocele
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Overview



What is meningoencephalocele?

What causes meningoencephalocele?

Is meningoencephalocele inherited?


What is meningoencephalocele?

Meningoencephalocele is a type of encephalocele characterized by the protrusion of both meninges (membranes that cover the brain and spinal cord) and brain tissue through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the skull defect. The more common frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital boneHydrocephalus, abnormalities of the eyeball and lacrimal duct (tear duct) and other findings have been associated with the condition.[1][2] Some affected individuals have intellectual disabilities while others have normal psychomotor development.[3] The condition is typically congenital (present at birth) but rarely has been reported to occur spontaneously in older individuals.[4] The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes surgery to repair the defect.[1]
Last updated: 9/21/2011

What causes meningoencephalocele?

The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition.[1]
Last updated: 9/21/2011

Is meningoencephalocele inherited?

Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition.[1]
Last updated: 9/21/2011

References
  1. Sitthiporn Agthong and Viroj Wiwanitkit. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurology. 2002; 2:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC113760/?tool=pubmed. Accessed 9/19/2011.
  2. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic Factors in Patients with Occipital Encephalocele. Pediatric neurosurgery 2010. 2010; 46(1):6-11.
  3. Meling TR, Due-Tønnessen BJ, Helseth E, Skjelbred P, Arctander K. [Frontoethmoidal meningoencephaloceles]. Tidsskr Nor Laegeforen. August 20, 2000; 120(19):2250-2252.
  4. Nahas Z. Spontaneous meningoencephalocele of the temporal bone: clinical spectrum and presentation. Arch Otolaryngol Head Neck Surg. May 1, 2008; 134(5):509-518.